Variant report

Variant	nsv1016691
Chromosome Location	chr7:106880953-106960515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:320)
CpG islands
(count:0)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:106958955-106959760	K562	blood:	n/a	n/a
2	ARID3A	chr7:106949848-106950099	K562	blood:	n/a	n/a
3	ARID3A	chr7:106960386-106961048	K562	blood:	n/a	n/a
4	ATF1	chr7:106960276-106960691	K562	blood:	n/a	n/a
5	ATF1	chr7:106958997-106959391	K562	blood:	n/a	n/a
6	ATF3	chr7:106958879-106959433	K562	blood:	n/a	n/a
7	BCL3	chr7:106914946-106915338	GM12878	blood:	n/a	n/a
8	BCL3	chr7:106914923-106915366	GM12878	blood:	n/a	n/a
9	BHLHE40	chr7:106960236-106960693	K562	blood:	n/a	n/a
10	BHLHE40	chr7:106958976-106959335	K562	blood:	n/a	n/a
11	BHLHE40	chr7:106926722-106926824	GM12878	blood:	n/a	n/a
12	CBX3	chr7:106958814-106959589	K562	blood:	n/a	n/a
13	CBX3	chr7:106960136-106960734	K562	blood:	n/a	n/a
14	CBX3	chr7:106945904-106946346	K562	blood:	n/a	n/a
15	CCNT2	chr7:106959025-106959336	K562	blood:	n/a	n/a
16	CCNT2	chr7:106960178-106961024	K562	blood:	n/a	n/a
17	CEBPB	chr7:106943938-106944027	HepG2	liver:	n/a	n/a
18	CEBPB	chr7:106917977-106918169	HepG2	liver:	n/a	chr7:106918089-106918100
19	CEBPB	chr7:106959885-106960161	K562	blood:	n/a	n/a
20	CEBPB	chr7:106958793-106959641	K562	blood:	n/a	n/a
21	CEBPB	chr7:106960450-106960657	K562	blood:	n/a	n/a
22	CEBPB	chr7:106959048-106959287	K562	blood:	n/a	n/a
23	CEBPB	chr7:106952849-106953212	IMR90	lung:	n/a	n/a
24	CEBPB	chr7:106958979-106959321	IMR90	lung:	n/a	n/a
25	CEBPB	chr7:106889371-106889575	A549	lung:	n/a	chr7:106889468-106889479
26	CEBPB	chr7:106889503-106889539	HepG2	liver:	n/a	n/a
27	CEBPD	chr7:106960097-106961225	K562	blood:	n/a	n/a
28	CEBPD	chr7:106960154-106961233	K562	blood:	n/a	n/a
29	CEBPD	chr7:106949785-106950048	K562	blood:	n/a	n/a
30	CHD2	chr7:106958972-106959345	K562	blood:	n/a	n/a
31	CHD2	chr7:106899151-106899168	HepG2	liver:	n/a	n/a
32	CREB1	chr7:106958761-106959561	K562	blood:	n/a	n/a
33	CREB1	chr7:106958918-106959488	K562	blood:	n/a	n/a
34	CTCF	chr7:106905000-106905150	NB4	blood:	n/a	n/a
35	CTCF	chr7:106932500-106932650	GM12869	blood:	n/a	n/a
36	CTCF	chr7:106931940-106932090	NHEK	skin:	n/a	n/a
37	CTCF	chr7:106931870-106931999	K562	blood:	n/a	n/a
38	CTCF	chr7:106891503-106891534	GM13976	blood:	n/a	n/a
39	CTCF	chr7:106958640-106958646	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr7:106889558-106889635	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr7:106895362-106895364	K562	blood:	n/a	n/a
42	CTCF	chr7:106890660-106890810	GM12872	blood:	n/a	n/a
43	CTCF	chr7:106910240-106910390	WI-38	lung:	n/a	n/a
44	CTCF	chr7:106960313-106960336	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:106931952-106932068	Hela-S3	cervix:	n/a	n/a
46	CUX1	chr7:106959016-106959428	K562	blood:	n/a	n/a
47	CUX1	chr7:106960414-106960646	K562	blood:	n/a	n/a
48	CUX1	chr7:106921289-106921363	GM12878	blood:	n/a	n/a
49	E2F4	chr7:106901023-106901138	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr7:106924102-106924170	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:106939523..106941482-chr7:106941827..106943489,2	K562	blood:
2	chr7:106943945..106946377-chr7:106956421..106958965,2	K562	blood:
3	chr7:106951124..106952783-chr7:106959596..106961656,2	MCF-7	breast:
4	chr7:106909940..106911520-chr7:106918365..106920209,2	K562	blood:
5	chr7:106897719..106899298-chr7:106902891..106905667,2	K562	blood:
6	chr7:106926530..106928702-chr7:106956145..106958437,2	K562	blood:
7	chr7:106912900..106916299-chr7:106917013..106920101,3	K562	blood:
8	chr7:106951124..106952783-chr7:106959596..106961656,2	MCF-7	breast:
9	chr7:106928239..106930553-chr7:106930960..106933126,2	MCF-7	breast:
10	chr7:106944112..106947438-chr7:106948348..106951754,4	K562	blood:
11	chr7:106959037..106960658-chr7:107219489..107223407,3	K562	blood:
12	chr7:106910309..106913032-chr7:106924327..106926583,2	K562	blood:
13	chr7:106934661..106938675-chr7:106946887..106950206,3	K562	blood:
14	chr7:106893843..106895798-chr7:107222460..107225695,3	K562	blood:
15	chr7:106939523..106941482-chr7:106941827..106943489,2	K562	blood:
16	chr7:106902439..106904593-chr7:106905205..106907557,2	K562	blood:
17	chr7:106944112..106947438-chr7:106948348..106951754,4	K562	blood:
18	chr7:106808462..106810785-chr7:106940399..106942038,2	MCF-7	breast:
19	chr7:106956489..106959227-chr7:106962952..106965707,2	K562	blood:
20	chr7:106890607..106892740-chr7:106903344..106904868,2	K562	blood:
21	chr7:106928239..106930553-chr7:106930960..106933126,2	MCF-7	breast:
22	chr7:106808597..106811136-chr7:106920664..106923282,2	K562	blood:
23	chr7:106909940..106911520-chr7:106918365..106920209,2	K562	blood:
24	chr7:106877913..106879800-chr7:106888048..106890401,2	K562	blood:
25	chr7:106943945..106946694-chr7:106956421..106959648,3	K562	blood:
26	chr7:106923986..106926392-chr7:106929216..106932117,2	K562	blood:
27	chr7:106942508..106944552-chr7:106946505..106949146,2	MCF-7	breast:
28	chr7:106890607..106892740-chr7:106903344..106904868,2	K562	blood:
29	chr7:106923644..106925368-chr7:106925978..106927798,2	K562	blood:
30	chr7:106902439..106904593-chr7:106905205..106907557,2	K562	blood:
31	chr7:106923644..106925368-chr7:106925978..106927798,2	K562	blood:
32	chr7:106943945..106946377-chr7:106956421..106958965,2	K562	blood:
33	chr7:106912900..106916299-chr7:106917013..106920101,3	K562	blood:
34	chr7:106937807..106940017-chr7:106943156..106944916,2	MCF-7	breast:
35	chr7:106943945..106946694-chr7:106956421..106959648,3	K562	blood:
36	chr7:106942508..106944552-chr7:106946505..106949146,2	MCF-7	breast:
37	chr7:106937175..106939993-chr7:106946887..106948924,2	K562	blood:
38	chr7:106926530..106928702-chr7:106956145..106958437,2	K562	blood:
39	chr7:106937807..106940017-chr7:106943156..106944916,2	MCF-7	breast:
40	chr7:106923986..106926392-chr7:106929216..106932117,2	K562	blood:
41	chr7:106910309..106913032-chr7:106924327..106926583,2	K562	blood:
42	chr7:106937175..106939993-chr7:106946887..106948924,2	K562	blood:

No data

Variant related genes	Relation type
COG5	TF binding region
ENSG00000221356	TF binding region
ENSG00000221356	chromatin interactions
ENSG00000105856	chromatin interactions
ENSG00000075790	chromatin interactions
ENSG00000272854	chromatin interactions
ENSG00000164597	chromatin interactions

Extended variants
information (count: 2905 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2905 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562738712	chr7:106881004-106881005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574119064	chr7:106881087-106881088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543039612	chr7:106881114-106881115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562896325	chr7:106881211-106881212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575592089	chr7:106881237-106881238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530039696	chr7:106881257-106881258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73415425	chr7:106881261-106881262	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145513254	chr7:106881269-106881270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560130783	chr7:106881362-106881363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111253932	chr7:106881389-106881390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182860820	chr7:106881402-106881403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73187330	chr7:106881413-106881414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187335521	chr7:106881475-106881476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138167922	chr7:106881479-106881480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80055315	chr7:106881510-106881511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192660842	chr7:106881511-106881512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551791362	chr7:106881530-106881531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543351199	chr7:106881546-106881547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113457883	chr7:106881561-106881562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571772513	chr7:106881580-106881581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534121580	chr7:106881654-106881655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554391017	chr7:106881713-106881714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184598026	chr7:106881748-106881749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553740206	chr7:106881758-106881759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536777182	chr7:106881777-106881778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201819480	chr7:106881798-106881799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573267568	chr7:106881800-106881801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200567502	chr7:106881808-106881809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552299240	chr7:106881818-106881819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576524536	chr7:106881821-106881822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150123583	chr7:106881838-106881839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368478403	chr7:106881839-106881840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187669909	chr7:106881853-106881854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12056125	chr7:106881855-106881856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34699008	chr7:106881873-106881874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551706466	chr7:106881874-106881875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184749654	chr7:106881877-106881878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560672201	chr7:106881888-106881889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577918149	chr7:106881898-106881899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189156043	chr7:106881910-106881911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181714444	chr7:106881937-106881938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528923623	chr7:106881960-106881961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10953533	chr7:106881983-106881984	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs562098351	chr7:106881984-106881985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184306682	chr7:106881989-106881990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531215835	chr7:106881998-106881999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201158490	chr7:106882088-106882089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565362929	chr7:106882133-106882134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550775742	chr7:106882144-106882145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551397044	chr7:106882149-106882150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Chordoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:842 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106844600-106888400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:106846000-106925800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:106850400-106890000	Weak transcription	Hela-S3	cervix
4	chr7:106850800-106895200	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:106851000-106897600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
7	chr7:106851200-106882200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:106851200-106888200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:106851200-106892400	Weak transcription	Gastric	stomach
10	chr7:106851200-106892600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:106853400-106925600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:106855600-106883000	Weak transcription	Dnd41	blood
13	chr7:106860200-106882600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:106863800-106887400	Weak transcription	Thymus	Thymus
15	chr7:106864000-106889600	Weak transcription	Spleen	Spleen
16	chr7:106865000-106887000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:106865200-106884400	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:106865400-106884400	Weak transcription	Fetal Thymus	thymus
19	chr7:106865600-106888200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:106865600-106890600	Weak transcription	Aorta	Aorta
21	chr7:106865600-106892400	Weak transcription	HepG2	liver
22	chr7:106865800-106882600	Weak transcription	Lung	lung
23	chr7:106866600-106882400	Weak transcription	Fetal Stomach	stomach
24	chr7:106866600-106909600	Weak transcription	Placenta	Placenta
25	chr7:106866800-106884600	Weak transcription	Liver	Liver
26	chr7:106867000-106888000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:106867800-106884400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:106867800-106884600	Weak transcription	Adipose Nuclei	Adipose
29	chr7:106867800-106889800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:106868400-106883000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:106870800-106887600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:106871200-106882000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:106871400-106884800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:106871600-106889800	Weak transcription	NHDF-Ad	bronchial
35	chr7:106872000-106889800	Weak transcription	Fetal Lung	lung
36	chr7:106873800-106882400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:106873800-106882400	Weak transcription	Right Ventricle	heart
38	chr7:106874000-106884200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:106874000-106888200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:106874000-106888200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:106874000-106890200	Weak transcription	GM12878-XiMat	blood
42	chr7:106874000-106917800	Weak transcription	Osteobl	bone
43	chr7:106874000-106922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:106874000-106929200	Weak transcription	NH-A	brain
45	chr7:106874000-106945600	Weak transcription	Pancreas	Pancrea
46	chr7:106874200-106884200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:106874600-106885200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:106874800-106885600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:106874800-106886400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:106875000-106888200	Weak transcription	Brain Inferior Temporal Lobe	brain

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